title: Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
abstract: OBJECTIVE
  The aim of this study was to identify the incremental value and optimal role of cardiac magnetic resonance (CMR) imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)-associated desmosomal mutation carriers without histories of sustained ventricular arrhythmia.
  
  
  BACKGROUND
  Risk stratification of ARVD/C mutation carriers is challenging.
  
  
  METHODS
  Sixty-nine patients (mean age 27.0 ± 15.3 years, 42% men) harboring ARVD/C-associated pathogenic mutations (83% plakophilin 2) without prior sustained ventricular arrhythmias were included. Electrocardiographic and 24-h Holter monitoring findings closest to presentation were analyzed for electrical abnormalities per revised task force criteria. CMR studies were done to identify abnormal cardiac structure and function according to the revised task force criteria.
  
  
  RESULTS
  Overall, 42 patients (61%) presented with electrical abnormalities on the basis of electrocardiography and Holter monitoring, of whom 20 (48%) had abnormal results on CMR. Only 1 of 27 patients (4%) without electrical abnormalities at initial evaluation had abnormal CMR results. Over a mean follow-up period of 5.8 ± 4.4 years, 11 patients (16%) experienced sustained ventricular arrhythmias, exclusively in patients with both electrical abnormalities (electrocardiography and/or Holter monitoring) and abnormal CMR results.
  
  
  CONCLUSIONS
  These results suggest that electrical abnormalities on electrocardiography and Holter monitoring precede detectable structural abnormalities in ARVD/C mutation carriers. Therefore, evaluation of cardiac structure and function using CMR is probably not necessary in the absence of baseline electrical abnormalities. Among ARVD/C mutation carriers, the presence of both electrical and CMR abnormalities identifies patients at high risk for events and thus patients who might benefit from prophylactic implantable cardioverter-defibrillator placement.
authors.affiliation: Department of Medicine, Division of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Anneline S J M
authors.initials: AS
authors.lastname: te Riele
authors.forename: Aditya
authors.initials: A
authors.lastname: Bhonsale
authors.forename: Cynthia A
authors.initials: CA
authors.lastname: James
authors.forename: Neda
authors.initials: N
authors.lastname: Rastegar
authors.forename: Brittney
authors.initials: B
authors.lastname: Murray
authors.forename: Jeremy R
authors.initials: JR
authors.lastname: Burt
authors.forename: Crystal
authors.initials: C
authors.lastname: Tichnell
authors.forename: Srinivasa
authors.initials: S
authors.lastname: Madhavan
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Judge
authors.forename: David A
authors.initials: DA
authors.lastname: Bluemke
authors.forename: Stefan L
authors.initials: SL
authors.lastname: Zimmerman
authors.forename: Ihab R
authors.initials: IR
authors.lastname: Kamel
authors.forename: Hugh
authors.initials: H
authors.lastname: Calkins
authors.forename: Harikrishna
authors.initials: H
authors.lastname: Tandri
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003896:Desmosomes / Q000235:genetics*; D015716:Electrocardiography, Ambulatory; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods*; D008297:Male; D008396:Maryland / Q000453:epidemiology; D009154:Mutation; D051191:Plakophilins / Q000235:genetics; D012189:Retrospective Studies; D018570:Risk Assessment / Q000379:methods*; D055815:Young Adult
chemical_list: D051191:Plakophilins; D004247:DNA
keywords: ARVD/C; CI; CMR; ECG; ICD; RV; TFC; VT; arrhythmogenic right ventricular dysplasia/cardiomyopathy; cardiac magnetic resonance; cardiomyopathy; confidence interval; electrocardiographic; electrocardiography; implantable cardioverter-defibrillator; magnetic resonance imaging; right ventricular; risk stratification; tachyarrhythmias; task force criteria; ventricular tachycardia